ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.329_330delinsCC (p.Arg110Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794759 SCV000934186 pathogenic Li-Fraumeni syndrome 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 110 of the TP53 protein (p.Arg110Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. Experimental studies shown that this amino acid change impairs the transcriptional transactivation activity of the TP53 protein and its ability to regulate p53 response elements (PMID: 12826609, 23897043, 24076587, 21445056). A different variant (c.329G>C) giving rise to the same protein effect observed here (p.Arg110Pro) has been reported in individuals affected with Li-Fraumeni syndrome (PMID: 23894400 29070607, Invitae), indicating that this residue may be critical for protein function. For these reasons, this variant has been classified as Pathogenic.

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